Identification of pathogenic mutations for a Wolfram syndrome pedigree by whole exome sequencing and analysis of its clinical characteristics by MENG Xiangyu, YAN Dandan, CHEN Xianghui, LAI Siyu, XU Yun, GENG Ruina, ZHANG Hong, ZHANG Rong, HU Cheng, YAN Jing

“…The other members of this family included the proband′s sister, father, mother, paternal grandfather, paternal grandmother, uncle, aunt, as well as maternal grandfather, maternal grandmother, and two brothers of the proband′s mother. …”
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Clinical and genetic analysis of a pedigree affected with a syndromic form of hereditary gingival fibromatosis by ZHANG Mei, WANG Han, ZHU Jiaye, SUN Weibin, WU Juan

“…Results The proband, her mother, her maternal grandfather and her maternal grandfather's sister all suffered from gum hyperplasia; female patients had congenital hirsutism and macromastia, while male patients also had congenital hirsutism, which suggests that this pedigree may have a congenital syndrome. …”
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NON-CLASSIC 21 HYDROXYLASE DEFICIENCY CAUSED BY NEW COMPOUND HETEROZYGOUS MUTATIONS: A CASE REPORT AND LITERATURE REVIEW by QI Mengmeng, WANG Xuemei, LIU Yunting, WANG Qian, XIN Qianyu, LIN Hua, LYU Wenshan, YANG Lili

“…Her relatives’ sequencing results indicated that the missense mutation c.1451G>A (p:R484Q) originated from her maternal grandfather and mother, and the deletion mutation deletion exon 1-3 inherited from her paternal grandmother and father. …”
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